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Case Report | DOI: https://doi.org/10.31579/2690-1919/031
Advisor in Pediatrics and Pediatric Psychiatry, Children Teaching Hospital of Baghdad Medical City
*Corresponding Author: Aamir Jalal Al-Mosawi, Head, Iraq Headquarter of Copernicus Scientists International Panel, Baghdad, Iraq.
Citation: Aamir Jalal Al-Mosawi (2020) The Thirty Fourth and Thirty Fifth Cases of Goldberg Shprintzen Syndrome. J Clinical Research and Reports, 3(1); DOI:10.31579/2690-1919/031
Copyright: © 2020 Aamir Jalal Al-Mosawi. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Received: 30 January 2020 | Accepted: 14 February 2020 | Published: 18 February 2020
Keywords: goldberg-shprintzen syndrome; brain abnormalities; hemiplegia; Iraq
Goldberg Shprintzen syndrome is an autosomal recessive mental and growth retardation syndrome associated with distinctive facial dysmorphism, Hirschsprung disease, and a variety of neurologic abnormalities, and abnormalities on brain imaging studies.
Thirty three cases of Goldberg Shprintzen syndrome was reported from many countries (Canada, Pakistan, Japan, United Kingdom, Morocco, The Netherlands, Italy, Israel, France, Iran) including 2 patients reported by Goldberg and Shprintzen (1981), one patient reported by Brunoni et al (1983), two patients reported by Hurst et al (1988), two patients reported by Kumasaka and Clarren (1988), one patient reported by Halal and Morel (1990), two patients reported by Yomo , Taira , and Kondo (1991), one patient reported by Tanaka et al (1993), one patient reported by Ohnuma et al (1997), two patients reported by Fryer AE (1998), four patients reported by Brooks et al (1999), One patient reported by Imaizumi (2001), one patient reported by Silengo et al (2003), two patients reported by Shahar and Shinawi (2003), two patients reported by Brooks et al (2005), two patients reported by Murphy et al (2006), five patients reported by Drévillon , Megarbane , and Demeer (2013), one patient reported by Dafsari et al (2015), and one patient reported by Salehpour et al (2017).
The aim of this paper is to report the thirty fourth and thirty fifth cases of the syndrome which occurred in Iraqi brother and was associated with right hemiplegia in one patient.
Goldberg Shprintzen syndrome is an autosomal recessive mental and growth retardation syndrome associated with distinctive facial dysmorphism, Hirschsprung disease, and a variety of neurologic abnormalities, and abnormalities on brain imaging studies.The syndrome was first described by Goldberg and Shprintzen in 1981, who described a brother and sister with mental and growth retardation, hypertelorism, submucous cleft palate, and Hirschsprung aganglionic megacolon [1].
Thirty three cases of Goldberg Shprintzen syndrome was reported from many countries (Canada, Pakistan, Japan, United Kingdom, Morocco, The Netherlands, Italy, Israel, France, Iran) including 2 patients reported by Goldberg and Shprintzen (1981), one patient reported by Brunoni et al (1983), two patients reported by Hurst et al (1988), two patients reported by Kumasaka and Clarren (1988), one patient reported by Halal and Morel (1990), two patients reported by Yomo , Taira , and Kondo (1991), one patient reported by Tanaka et al (1993), one patient reported by Ohnuma et al (1997), two patients reported by Fryer AE (1998), four patients reported by Brooks et al (1999), One patient reported by Imaizumi (2001), one patient reported by Silengo et al (2003), two patients reported by Shahar and Shinawi (2003), two patients reported by Brooks et al (2005), two patients reported by Murphy et al (2006), five patients reported by Drévillon , Megarbane , and Demeer (2013), one patient reported by Dafsari et al (2015), and one patient reported by Salehpour et al (2017).
The aim of this paper is to report the thirty fourth and thirty fifth cases of the syndrome which occurred in Iraqi brother and was associated with right hemiplegia in one patient.
T.A.S was first seen at the age of four years and 10 months at the pediatric neuro-psychiatric clinic on the 29th of August, 2019, because of weakness of the right side of his body and inability to walk alone. He was also not saying any word and had distinctive facial features characterized by hypertelorism, narrow palpebral fissures, open mouth, and laterally lifted ear (Figure-1). He also had submucous cleft palate.
The boy had spastic right hemiparesis and was unable to walk alone, but he could stand momentarily unaided and was walking holding the wall and furniture (Figure-2). The boy had impaired fine motor skills and was unable to feed self with spoon nor drink with a cup appropriately.
The boy didn’t have clear history of birth asphyxia nor CNS injury or infection during infancy that can be blamed for the right hemiplegia. However, he had neonatal intestinal obstruction attributed to Hirschsprung disease and was treated by surgical resection and colostomy at about one month of age.
In 1981, Goldberg and Shprintzen described siblings with mental and growth retardation , distinctive facial dysmorphism, short-segment Hirschsprung disease, and cleft palate.
Brunoni et al (1983) reported the occurrence of Goldberg and Shprintzen syndrome in association with cleft lip and palate, and other minor congenital malformations [2].
Hurst et al (1988) reported the occurrence of Goldberg and Shprintzen syndrome in association with iris coloboma and defective neuronal migration. They described a consanguineous Pakistani pedigree in which two boys in separate sibships had Hirschsprung disease and microcephaly. One had iris coloboma and the other did not [3].
Kumasaka and Clarren (1988) reported the familial occurrence of the syndrome in association with central nervous system dysfunction [4].
Halal and Morel (1990) from Canada reported a boy with Hirschsprung megacolon associated with microcephaly, narrow palpebral fissures, broad nasal bridge, congenital heart defect, cryptorchidism, wide-base gait, short stature, developmental delay and abnormal computed tomography (CT) brain scan [5].
Yomo , Taira , and Kondo (1991) from Japan reported the ninth and tenth cases of Goldberg Shprintzen syndrome in a brother and sister with who had Hirschsprung disease, hypotonia, and ptosis. They emphasized that the condition is a distinct autosomal recessive syndrome [6].
Tanaka et al (1993) from Japan reported a 5-year-old girl with Goldberg-Shprintzen syndrome who had Hirschsprung disease, distinctive facial dysmorphism, psychomotor retardation, epilepsy, and congenital heart disease. Brain computed tomography showed evidence of defective neuronal migration and/or dysgenesis of the brain [7].
Fryer AE (1998) from the United Kingdom reported a family with Goldberg-Shprintzen syndrome, and emphasized the intra-familial variability associated with syndrome[9].
Brooks et al (1999) from the Netherlands reported four children with Goldberg-Shprintzen syndrome. Three of them from a large, consanguineous, Moroccan family had Hirschsprung disease, mental retardation, microcephaly, and distinctive craniofacial dysmorphism.The fourth child showed similar clinical features, with the exception of Hirschsprung disease [10].
Silengo et al (2003) reported an Italian infant with Goldberg-Shprintzen syndrome who had short-segment Hirschsprung disease, and brain abnormalities including pachygyria and cerebellar hypoplasia. The patient had the distinctive dysmorphic facial features of the syndrome including hypertelorism, depressed nasal bridge, bulbous nose, and full lips. Other features the patient had included pale optic discs with poor fixation and abnormal EEG. Brain MRI showed pachygyria, hypoplasia of the corpus callosum, and cerebellar hypoplasia. The girl showed severely delayed psychomotor development at age four months. Silengo et al thought that a defect in neuronal crest cell migration and in neuronal migration is associated with syndrome [12].
Shahar and Shinawi (2003) from Israel thought that Goldberg Shprintzen syndrome is the result of a neurocristopathy resulting from defective growth, differentiation, and migration of the neural crest cells. They emphasized that Hirschsprung disease is the result of defective migration of neural crest cells on to the colonic submucosa and is also considered a neurocristopathy. They reported two children with Goldberg Shprintzen syndrome associated with Hirschsprung disease and a wide spectrum of neurologic abnormalities including agenesis of the corpus callosum and cortical malformations associated with intractable seizures in one child [13].
Brooks et al (2005) described a family with Hirschsprung disease as a variable feature and bilateral generalized polymicrogyria malformation of the cerebral cortex characterized by an increased number of smaller convolutions or gyri and disruption of the normal 6-layered cerebral cortical structure as a constant feature [14].
Murphy et al (2006) from the united Kingdom reported two brothers from a non-consanguineous family who have classical features of Goldberg-Shprintzen syndrome. The novel findings in this report were foot anomalies including camptodactyly and clinodactyly of the 2nd to 4th toes [15].
Drévillon , Megarbane , and Demeer (2013) from France reported five new patients with Goldberg-Shprintzen syndrome from three unrelated consanguineous families families[16]. All patients had moderate to severe psychomotor retardation, microcephaly, poor or absent language development, and hypotonia. Four patients had Hirschsprung disease, and one had constipation. Dysmorphic facial features included sparse hair, arched eyebrows, long eyelashes, ptosis, downslanting palpebral fissures, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip, and pointed chin. Variable brain abnormalities was observed in the patients and included polymicrogyria, gyral anomalies, corpus callosum hypoplasia, and enlargement of the subarachnoid space, were also present. Other abnormalities included congenital heart disease (2 patients), urogenital abnormalities (2 patients), oligodontia (1 patient), and scoliosis (1 patient). Drevillon et al (2013) thought that the phenotype of the syndrome is caused by defects in development of both the enteric and central nervous systems.
Dafsari et al (2015) from the United Kingdom reported a 7-year-old girl with Goldberg-Shprintzen syndrome caused by a homozygous deletion of exons 5 and 6 of the KIAA1279 gene and evidence of axonal sensory motor neuropathy. The girl had motor developmental delay, hypotonia, ptosis and absent reflexes [17].
Salehpour et al (2017) from Iran reported a 16-year boy with Goldberg Shprintzen syndrome and refractory seizures. The boy had a novel nonsense (stop gain) homozygous mutation in KIAA1279 gene (KIAA1279: NM_ 015634: exon6:c. C976T: p.Q326X) [18].
In this paper, the thirty fourth and thirty fifth cases of the syndrome which occurred in Iraqi brother was reported, and one of the patients was described in details. Brain MRI of one of the patients who had hemiplegia showed some atrophic changes at the left parietal region. The neurologic and brain abnormalities in this patient has not been reported before in association with this syndrome.
The author would like to express his gratitude for the parents who accepted the publication of the photos of their children.
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